Labrum, 2009: Overview of all reported PxMD-CACNA1A patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
3
|
8
|
n.a.
|
Gait ataxia
-Limb ataxia (interictal) -Gait ataxia (ictal) Headache Ataxia Nausea (ictal) Nausea Ataxia, limb Emotional stress trigger -Gait ataxia (interictal) Ataxia (ictal) Show more (+8) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
39
|
n.a.
|
n.a.
|
Square wave jerks
Ataxia (ictal) Ataxia Gait ataxia Nystagmus -Gait ataxia (ictal) Nystagmus (interictal) Dysarthria Headache Dysarthria (ictal) Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
5
|
n.a.
|
n.a.
|
Vomiting (ictal)
Dysarthria (ictal) Gait ataxia Ataxia (ictal) Dysarthria Headache (ictal) Nystagmus -Gait ataxia (interictal) Vertigo (ictal) Nystagmus (interictal) Square wave jerks -Gait ataxia (ictal) Vertigo Headache Ataxia Ataxia, limb Ataxia, limb (ictal) Vomiting Show more (+15) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
-Gait ataxia (ictal)
Ataxia Nystagmus Nausea Ataxia (ictal) Nausea (ictal) Emotional stress trigger Dysarthria Gait ataxia Dysarthria (ictal) Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
4
|
59
|
n.a.
|
Headache
Nystagmus Diplopia (ictal) Diplopia Nystagmus (interictal) Ataxia (ictal) Dysarthria (ictal) Headache (ictal) Gait ataxia Dysarthria (interictal) Fatigue trigger Ataxia, limb Ataxia -Gait ataxia (interictal) Emotional stress trigger -Gait ataxia (ictal) Dysarthria Show more (+14) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
10
|
n.a.
|
n.a.
|
Vertigo
Ataxia (ictal) Ataxia, limb Nystagmus -Limb ataxia (interictal) Vertigo (ictal) Cerebellar atrophy Nystagmus (ictal) -Gait ataxia (ictal) Gait ataxia Seizures Nausea (ictal) Vomiting Vomiting (ictal) Nausea Ataxia Show more (+13) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
2
|
n.a.
|
n.a.
|
Ataxia (ictal)
-Gait ataxia (interictal) Vomiting Nystagmus (interictal) Gait ataxia -Gait ataxia (ictal) Nystagmus Ataxia Vomiting (ictal) Show more (+6) |
n.a.
|